Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs632887
rs632887
1 12 3283185 3 prime UTR variant A/G snv 0.44 0.700 1.000 3 2019 2019
dbSNP: rs10491967
rs10491967
2 12 3258927 intron variant G/A snv 0.21 0.700 1.000 1 2016 2016
dbSNP: rs16930370
rs16930370
2 12 3278531 synonymous variant T/C snv 0.16 0.20 0.700 1.000 1 2019 2019
dbSNP: rs3782787
rs3782787
2 12 3249095 intron variant C/A;G snv 0.700 1.000 1 2018 2018
dbSNP: rs67551338
rs67551338
2 12 3283934 3 prime UTR variant C/T snv 4.2E-02 0.700 1.000 1 2017 2017